Article
Network-based stratification of allele-specific expression reveals patient subgroups in Huntington's disease.
Bioinformatics (Oxford, England) - 1 Aug 2026
van Beek Daan, Iyer Aishwarya, Ehrhart Friederike, Evelo Chris T, de Kok Theo M, Arts Ilja C W, Adriaens Michiel E, Kutmon Martina
Abstract excerpt
MOTIVATION: Huntington's disease (HD) exhibits substantial variability in age of onset and disease progression that is not fully explained by CAG repeat length alone. Part of this residual variation is heritable, implicating additional genetic mechanisms. cis-regulatory variation, genetic variants that alter transcription and splicing of nearby genes, represents one such mechanism that can be quantified through...
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